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Genetic testing for deafness—GJB2 and SLC26A4 as causes of deafness

✍ Scribed by Richard J.H Smith; Nathaniel H Robin

Book ID
114046871
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
100 KB
Volume
35
Category
Article
ISSN
0021-9924

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✍ S. Prasad; R.A. Cucci; G.E. Green; R.J.H. Smith 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB 👁 1 views

Mutations in GJB2 are the most common cause of hereditary congenital hearing loss in many countries and are found in about half of persons with severe-to-profound congenital autosomal recessive non-syndromic hearing loss (ARNSHL). We report the results of GJB2 mutation screening in 209 consecutive p